Undiagnosed DiseasesNCT06595940
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
An observational study of Undiagnosed Diseases and Rare Diseases, run by National Human Genome Research Institute (NHGRI) at 1 site in Mauritius.
Trial summary
Background: Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. Read more about this study
- Who is it for?
- Ages 2 to 100 years
- Conditions the study is for
- Undiagnosed Diseases, Rare Diseases
- How many people
- 400 participants
- Where
- 1 siteMauritius
- Study dates
- 11 Nov 2026to 21 Aug 2034
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: To be eligible to participate in this study, an individual must meet all of the following criteria: willingness to comply with all study procedures and availability for the duration of the study; age >2 years when enrolled in the study; suspicion of genetic cause for illness due to strong family history, young age of onset, illness being either more or less severe than expected; verification of meeting clinical inclusion criteria by reviewing a participant's medical record; ability of participant and their parent or guardian (if <18 years old) to understand and willingly sign informed consent document. Those with previous genetic testing that was positive, those with evidence that their symptoms are caused by a condition unlikely to be genetic, or those with conditions that may interfere with their ability to participate in required testing will be excluded from this study.
Who may be able to join
- To be eligible to participate in this study, an individual must meet all of the following criteria:
- Stated willingness to comply with all study procedures and availability for the duration of the study.
- Probands aged >2 years at enrollment or first-degree relatives of probands (age >2 years).
- Suspicion of genetic etiology of illness due to strong family history, precocious onset, severity or mildness of phenotype, or all factors being present.
- Affected individuals and unaffected family members, determination of clinical criteria for inclusion will be determined by medical record review prior to participation.
- Ability of participant and their parent or guardian to understand and have willingness to sign a written informed consent and/or assent document.
Who cannot join
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Anyone unwilling to provide informed consent (for themselves as adults, on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.
- Individuals who have undergone diagnostic testing for a genetic condition AND the test results were positive.
- Evidence that symptoms are secondary or caused by an undiagnosed condition that is unlikely to have a genetic cause.
- In the opinion of the investigator, participant has a condition that would preclude participation in the study by interfering with the participant s ability to engage in the required protocol evaluation and testing.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Mauritius1 site, 1 recruiting
- Recruiting
University of Mauritius
Moka
Ganessen Chinien, Not Listed, g.chinien@uom.ac.mu
About this study
Official title: Genomic Sequencing for Evaluation of Uncommon Disease Manifestations Through the Childhood Complex Disease Genomic Section
Background:
Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited.
Read more
Objective:
To look for potential genetic sources of diseases among children and their families.
Eligibility:
Children aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US.
Design:
Participants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.
Read the detailed description
Study Description:
We plan to couple novel techniques of genomic interrogation with more traditional methods involved in genetic discovery to investigate a broad range of diseases and conditions in locations without access to medical genetics for which there exists strong evidence that genetic factors are contributory.
Objectives:
Primary Objective: To investigate the genetic contribution to conditions displaying unconventional clinical phenotypes/familial segregation among individuals belonging to historically underrepresented populations.
Secondary Objective: To develop an international collaborative network across countries with limited or no access to medical genetics.
Tertiary/Exploratory Objective: To identify the psychosocial impact and cultural considerations of the diagnostic odyssey in countries without medical genetics access to better inform genetic counseling practices for these populations.
Endpoints:
Primary Endpoint: Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.
Secondary Endpoint: Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics.
Tertiary/Exploratory Endpoint: Elucidation of psychosocial impact and cultural considerations for patients with limited access to medical genetics.
- Conditions
- Undiagnosed Diseases, Rare Diseases
- Keywords
- Genetics, Genomic sequencing, Under-represented populations, Medical genetics, Clinical Phenotype, Uncommon disease
- Medical subject headings
- Undiagnosed Diseases, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Affected | Individuals with a condition that is expected to be caused by a genetic change | |
| Unaffected | Individuals who are first-degree relatives (parents, siblings, children) of affected individuals enrolled in this study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.
The outcome will be achieved when we have reached a point where use of appropriate genomic interrogation techniques does not yield new pathophysiological insights.
Measured: 10 years
Secondary outcomes (1)
Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics.
The creation of intra-institutional protocols, relationships with ethics committees, and development of genetic study expertise will indicate this endpoint has been reached.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2024
- Study start11 Nov 2026 (estimated)
- Primary completion21 Aug 2034 (estimated)
- Study completion21 Aug 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Undiagnosed DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Neil A Hanchard, M.D., Principal investigator, National Human Genome Research Institute (NHGRI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06595940
- Sponsor's protocol ID
- 10001645
- Other IDs
- 001645-HG
- Status last verified
- 18 Sep 2026
- First submitted
- 13 Sep 2024
- Last updated
- 6 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomic Sequencing for Evaluation of Uncommon Disease Manifestations Through the Childhood Complex Disease Genomic Section
- ClinicalTrials.gov ID
- NCT06595940
- Acronym / sponsor ID
- 10001645
- Conditions
- Undiagnosed Diseases, Rare Diseases
- Keywords
- Genetics, Genomic sequencing, Under-represented populations, Medical genetics, Clinical Phenotype, Uncommon disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- National Human Genome Research Institute (NHGRI)US National Institutes of Health
- Study start
- 11 Nov 2026 (estimated)
- Primary completion
- 21 Aug 2034 (estimated)
- Study completion
- 21 Aug 2034 (estimated)
- First posted
- 19 Sep 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
Genetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited.
Objective:
To look for potential genetic sources of diseases among children and their families.
Eligibility:
Children aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US.
Design:
Participants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.
Detailed description
Study Description:
We plan to couple novel techniques of genomic interrogation with more traditional methods involved in genetic discovery to investigate a broad range of diseases and conditions in locations without access to medical genetics for which there exists strong evidence that genetic factors are contributory.
Objectives:
Primary Objective: To investigate the genetic contribution to conditions displaying unconventional clinical phenotypes/familial segregation among individuals belonging to historically underrepresented populations.
Secondary Objective: To develop an international collaborative network across countries with limited or no access to medical genetics.
Tertiary/Exploratory Objective: To identify the psychosocial impact and cultural considerations of the diagnostic odyssey in countries without medical genetics access to better inform genetic counseling practices for these populations.
Endpoints:
Primary Endpoint: Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.
Secondary Endpoint: Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics.
Tertiary/Exploratory Endpoint: Elucidation of psychosocial impact and cultural considerations for patients with limited access to medical genetics.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected | – | –Individuals with a condition that is expected to be caused by a genetic change |
| Unaffected | – | –Individuals who are first-degree relatives (parents, siblings, children) of affected individuals enrolled in this study |
Who may qualify
- Ages
- 2 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- To be eligible to participate in this study, an individual must meet all of the following criteria: willingness to comply with all study procedures and availability for the duration of the study; age >2 years when enrolled in the study; suspicion of genetic cause for illness due to strong family history, young age of onset, illness being either more or less severe than expected; verification of meeting clinical inclusion criteria by reviewing a participant's medical record; ability of participant and their parent or guardian (if <18 years old) to understand and willingly sign informed consent document. Those with previous genetic testing that was positive, those with evidence that their symptoms are caused by a condition unlikely to be genetic, or those with conditions that may interfere with their ability to participate in required testing will be excluded from this study.
Key inclusion criteria (6 listed)
- To be eligible to participate in this study, an individual must meet all of the following criteria:
- Stated willingness to comply with all study procedures and availability for the duration of the study.
- Probands aged >2 years at enrollment or first-degree relatives of probands (age >2 years).
- Suspicion of genetic etiology of illness due to strong family history, precocious onset, severity or mildness of phenotype, or all factors being present.
- Affected individuals and unaffected family members, determination of clinical criteria for inclusion will be determined by medical record review prior to participation.
Key exclusion criteria (5 listed)
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Anyone unwilling to provide informed consent (for themselves as adults, on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.
- Individuals who have undergone diagnostic testing for a genetic condition AND the test results were positive.
- Evidence that symptoms are secondary or caused by an undiagnosed condition that is unlikely to have a genetic cause.
- In the opinion of the investigator, participant has a condition that would preclude participation in the study by interfering with the participant s ability to engage in the required protocol evaluation and testing.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.
Time frame: 10 years
The outcome will be achieved when we have reached a point where use of appropriate genomic interrogation techniques does not yield new pathophysiological insights.
1 secondary outcome
Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics.
Time frame: 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Nov 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Neil A Hanchard, M.D. principal investigator
National Human Genome Research Institute (NHGRI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Undiagnosed Diseases and Rare Diseases, run by National Human Genome Research Institute (NHGRI) at 1 site in Mauritius.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Mauritius. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Neil A Hanchard, M.D. ((301) 594-2151, neil.hanchard@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes. (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Nov 2026.